Newborn Screening Case Study of CBS Gene Defect- Case Based on Household Registration in Taitung
Date Issued
2010
Date
2010
Author(s)
Hu, Min-Huei
Abstract
Background: A mutation of the CBS gene associated with classical homocystinuria been discovered in Taiwan. The high incidence of the gene however, is inconsistent with results of neonatal screening, indicating that the sensitivity of the current protocol (methionine levels detected by tandem mass spectrometry) should be reassessed. In this research, we proposed that tandem mass spectrometry coupled with the allelic-specific PCR could make an early recognition easier and more reliable.
Methods: In this study, we determined the carrier rate of p.D47E mutation by allelic-specific PCR, by establishing relationship between the p.D47E mutation and levels of methionine detected through tandem mass spectrometry.
Results: Genomic DNA from blood spots was proven suitable for allelic-specific PCR. Wide scale screening for p.D47E mutation was performed, and results showed that only 2 out of 3,357 newborns from the Taitung area were heterozygous carries. The carrier rate of p.D47E mutation was 1/3,357, making the estimated incidence of homocystinuria less than one in a million. The levels of homocysteine in these two heterozygous carriers has not increased.
Conclusion: Our data indicated that the carrier rate of the p.D47E mutation of CBS gene in the Taitung area was only 1 out of 3,357, which indicated a low prevalence in Taiwan. As a result, it is our opinion that including point-mutation genetic assay for homocysteine is unnecessary for the screening newborns in Taiwan.
Subjects
Newborn screening
Homocystinuria
Methionine
Taitung
Type
thesis
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